Table 3.

Key AS symptoms and impacts identified by caregivers, with key findings and an example of each from the interview transcripts

Type of AS symptom and key finding	Example from caregiver interviews
Expressive communication impairment is a core component of AS. The majority of caregivers reported that the AS individual they cared for was non-verbal (83%), few AS individuals used 10–20 words (10%). Half the AS individuals used gestures and/or vocalizations to communicate (53%), and a minority of caregivers reporting an AS individual using sign language (27%)	Um, it kind of just depends on how much experience they have with people who are nonverbal. Um, like our family members who've been around him some or, you know, like his grandmother who babysits and, um, you know, we lived with her for the first, uh, seven years of his life, you know, she–she's like me, and she can just pick up on pretty much anything that he needs or wants or is trying to tell her. Um, but like my sister, who he doesn't see nearly as often, you know, it's definitely much more of a struggle for him to, uh, to communicate with her and–and her with him Mother of 11-year-old boy with UBE3A deletion, USA
Seizure frequency ranged from multiple times per day (40%), to a few times per month (13%), or a few times per year (23%). Seizures can impact the ability to leave the home, be a reason for frequent hospital visits, and be distressing for the individual and caregiver	… we start seeing like we call shaking seizure, he goes in air and shook for a second or two. And, it’s at least someone electrocuted him, but he couldn’t move his body, he looked scared and after that, you know, he—he cried Mother of 8 year old boy with UBE3A mutation, USA
Disruptive behavior can take different forms, for example, hair pulling, biting, grabbing, and pinching. This was reported across all age groups and all AS genotypes	Those have gotten worse over time… when he gets frustrated it’s usually an escalated thing. Um, usually he’ll just push things away to start with and then it goes down, uh, and it—it doesn’t cease or redirect. At that point, his next step is usually he bites his own palm, his right palm, which is calloused like mad… Um, if that doesn’t work he will pull your hair… all of those are still huge, uh, things that he still does to this day Mother of 18-year-old boy with UBE3A deletion, USA
Cognitive and/or learning impairment includes impaired judgement, limited concentration and difficulties focusing, although some caregivers also noted their children have a good memory for people and faces	…. Um, that a sharp knife, if he were to, you know, well, clearly he doesn’t have knives in his hands, but if he—he did as a little boy one time, tried to cut his watermelon. You know, we had been cutting a watermelon and turned for a second and I don’t think he had any clue how he could have hurt himself, none whatsoever. But, yes, those are kind of scary things Mother of a 23-year-old son with UBE3A mutation, USA
Motor difficulties include both gross and fine motor: walking difficulties (73%), poor balance (53%) and fine motor skills or general motor skills issues (23%) and tremors or jerky movements	Well, something that perhaps does give a clearer picture: if she would want to grasp a glass of water, then you have a great chance that first her fingertips touch the glass because she doesn't estimate well, and so then she bumps it instead of picking it up well Mother of a 6-year old daughter with UBE3A deletion, Netherlands
Sleep disturbances often included not sleeping well (80%), but could include snoring and teeth grinding (40%), bed-wetting (20%), and sleep terrors (17%). These sleep disturbances were also related to subsequent mood and disruptive behavior (13%). Sleep disturbances tended to improve with age	For his entire life, his sleep patterns have been in cycles. Uh, everything that [name] is—it lacks and annoys, um, it would be good for a week and then horrific for three weeks. Uh, it—it—anytime anything as far as his sleep has improved, it’s only been temporary. Um, currently he sleeps—he’ll fall asleep about 7:30 or 8:00 in the evening and he’ll sleep until about midnight. He’ll be up for two hours, three hours and then try to do it again until—he has to be awakened at 5:00 for school, to get ready for school Mother of 15-year-old boy with UBE3A deletion, USA
Self-care was reported as impaired by most caregivers including requiring assistance (63%) or inability to dress independently (10%). Assistance with meals was required by a third (30%), with some individuals requiring their food to be cut up (20%)	And then-and-and then the-the putting the clothes on with him, oh, my gosh, it’s a like World War III when I’m brushing his teeth, anything that has to do with his-with him touching his-his body, it’s-it’s like World War III in my house when I’m brushing his teeth it’s a struggle Mother of a 5-year old son with chromosome 15 UPD, USA